Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
Schlotawa, Lars
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. [electronic resource] - European journal of human genetics : EJHG Sep 2013 - 1020-3 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2012.291 doi
Cell Line, Tumor
Child, Preschool
Enzyme Stability--genetics
Fatal Outcome
Female
Humans
Molecular Diagnostic Techniques
Multiple Sulfatase Deficiency Disease--diagnosis
Oxidoreductases Acting on Sulfur Group Donors
Sulfatases--genetics
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. [electronic resource] - European journal of human genetics : EJHG Sep 2013 - 1020-3 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2012.291 doi
Cell Line, Tumor
Child, Preschool
Enzyme Stability--genetics
Fatal Outcome
Female
Humans
Molecular Diagnostic Techniques
Multiple Sulfatase Deficiency Disease--diagnosis
Oxidoreductases Acting on Sulfur Group Donors
Sulfatases--genetics